| Metadata | |
|---|---|
| ID | DOID:7400 |
| Name | Nijmegen breakage syndrome |
| Definition | A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. https://www.ncbi.nlm.nih.gov/pubmed/3277755, https://www.ncbi.nlm.nih.gov/pubmed/9042920 |
| Xrefs |
SNOMEDCT_US_2023_03_01:234638009 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
ataxia-telangiectasia variant [EXACT] Berlin breakage syndrome [EXACT] immunodeficiency-microcephaly-chromosomal instability syndrome [EXACT] Microcephaly, normal intelligence and immunodeficiency [EXACT] microcephaly-immunodeficiency-lymphoreticuloma syndrome [EXACT] NBS [EXACT] Seemanova syndrome II [EXACT] Seemanova syndrome type 2 [EXACT] |
| Parent Relationships |
is_a syndrome |